Adult Congenital Heart Disease

adult congenital heart disease
adult congenital heart disease

See Study on Changing Mortality in Congenital Heart Disease – Journal of the American College of Cardiology


Here are few more types of Congenital Heart Disease.

1. Aortic Stenosis

Aortic stenosis is also known as “aortic valve stenosis” and “rheumatic aortic stenosis.” People who have this condition have a problem because their aortic valve isn’t open all the way. The aorta, the principal artery in the body, carries blood from the heart throughout the body. In order to get into the aorta, blood flows out from the heart, into the aortic valve. However, because the aortic valve is not open all the way for people who have aortic stenosis, the result is that people with this condition don’t have as much blood flowing out from their hearts. More specifically, blood is obstructed from the left ventricle (one of the chambers of the heart). This, aortic stenosis is a heart valve disorder. In particularly severe cases, less blood overall is delivered to the rest of the body, including the brain.

Because of the obstruction, the left ventricle has no choice but to work harder than the right ventricle. By working in this way, the muscles of the ventricle wall become stronger over time. Contrary to what you might expect, this strengthening causes chest pain over time. Another consequence is that too much blood may come into the lungs.

Although aortic stenosis may be congenital (that is to say, a person is born with it), it usually develops as a person gets older. In congenital cases, it is often correlated with other conditions. If a person has, for example, abnormal bicuspid valves (more on that later), than the valve can calcify faster than it would otherwise.

The causes of aortic stenosis include strep throat, scarlet fever and rheumatic fever. Men are more likely to be targeted by this condition. As for symptoms, many times it is asymptomatic. Individuals with it may not realize they have a problem until they go get their heart examined for another health condition. However, it does present symptoms. These include, among others, palpitations, chest pain (because of the strengthened left ventricle), fainting and weakness more generally, and a cough that have blood in it. Hypotension (low blood pressure) is often correlated with aortic stenosis.


2. Bicuspid aortic valve

A bicuspid aortic valve refers to when an aortic valve has two leaflets (aka cusps), as opposed to the usual three. The aortic valve is the valve that brings oxygenated blood from the heart to the aorta, the main blood vessel in the body. Because of the valve’s activity, the blood cannot go back from the aorta and into the heart.

When someone has a bicuspid aortic valve, then they might not be able to properly prevent blood from falling back into their heart, a phenomenon known as “aortic regurgitation.” Another consequence of the disorder is that the person might have a stiff aortic valve that does not open up adequately. As a result—in order to get blood past the aortic valve—their heart will have to pump harder than it would otherwise. Over time, the aorta grows and becomes bigger than it ought to.

Bicuspid aortic valve is congenital; people have it when they are born, rather than developing it. It is the most common of all the congenital heart diseases, and—if one family member has it—then there’s a good chance that other family members might have it too. The disorder targets women more often than men. It may lead to problems, aside from that of the blood going back into the heart; some of these problems are congestive heart failure and a narrower opening of the aortic valve.

Symptoms of the disorder include breathing problems, chest pain, palpitations and fainting and weakness more generally. To find out if someone has this problem, then tests will show that the pulse is not strong when it is felt in the wrists, and naturally that the heart has been enlarged. Tests include x-rays, MRI of the heart, and echocardiograms. A variety of medications can be used to treat the condition, including diuretics and ACE inhibitors.


3. Complete heart block

Complete heart block is also known as third-degree atrioventricular block (aka AV block). In complete heart block—which is an arrhythmia, in which the heart does not beat regularly—the electrical signal in the heart does not pass from the heart’s own “natural pacemaker” (aka the sinoatrial, or SA, node) down to the lower chambers of the heart, which is what is supposed to happen. As a result, an SA node in the lower chamber takes on this role instead. Although the ventricles are then free to pump blood, they cannot go as fast as would be the case otherwise. Thus, it makes sense that the solution—in those cases where the SA node isn’t strong enough—to replace the natural pacemaker with an artificial one.

Complete heart block refers to an AV block of the third degree. First- and second-degree AV block are less intense than the third variation of the disorder. Therefore, treatment is more intensive than in the other two cases. Because third-degree AV blocks is restrictive on the heart’s ability to pump blood throughout the body, it is very dangerous. Symptoms include dizziness, fainting, fatigue, and related symptoms. If not treated fast, it can cause death.

This is a congenital defect; it is present when the baby is born, in other words. Although it is congenital, the AV block can be caused if the person injures themselves. It can also be caused by heart disease or as a result of drug usage. The defect has a strong correlation with autoantibodies that create reactions when they come into contact with certain proteins. People who have any kind of heart block are also at risk of developing arrhythmias, like atrial fibrillation.


4. DiGeorge Syndrome

DiGeorge Syndrome—often abbreviated as “DGS”—is one of a group of disorders that falls into a category. These disorders all have one thing in common: people who have them are missing a piece of their chromosomes. This mutation is known as a 22q11 deletion. Because of this genetic problem, many combinations of symptoms can be resulted, causing different mutations. According to estimates, one of every 4000 new births has some form of 22q11 deletion.

People who have the congenital DiGeorge Syndrome have many facial symptoms, such as a cleft palate, long faces, small teeth, high nasal bridges, downturned mouths. They also often have heart defects, problems with their immune systems, and pulmonary difficulties. They often develop learning difficulties as they get older. Other problems can develop as well. In fact, the consequences of DiGeorge Syndrome are multiple and various; people can have many completely different symptoms, and show them in different degrees. That being said, despite their disorder, many people affected by DiGeorge Syndrome live a normal length of time.

The disorder can be discovered via a variety of different tests. The missing piece of chromosome cannot be captured by a microscope, as it is too small to see. So, doctors will use the FISH test (the acronym stands for “fluorescence in situ hybridisation”) to diagnose a potential case of DiGeorge Syndrome. This test allows doctors to see whether both copies of chromosome 22 are present; if that’s the case, then they will both light up. However, if only one copy lights up, then the gene deletion is in place, and the patient has some form it. The FISH test can also be used on babies who are not yet born. All this being said, the test is not foolproof; often, practitioners will have to use genetics test.

However, this test doesn’t pick up every case of DiGeorge Syndrome. Some people will need to have more advanced DNA tests and occasionally the diagnosis may be solely made on the characteristic features and symptoms.


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5. Hypoplastic Left Heart syndrome (HLHS)

Hypoplastic Left Heart Syndrome (HLHS) refers to a birth defect in which a hole is present in the septum—this is the wall that bisects the atria, which are the upper chambers of the heart. Although a hole may close by itself, this is often not the case. In these situations, surgery is required. This defect is present when the child is born, so it is a congenital heart defect.

The disorder develops if—while the baby is gestating in their mother’s stomach—the openings that divide the atria do not close up. It is common for babies to develop these walls, and they generally close either during the pregnancy or not long after the birth. However, HLHS is what happens if the walls don’t close up. The hole is then known as an atrial septal defect.

Because the hole is present, more blood will flow into the lungs than is supposed to. As a result, over time, damage may be caused to the blood vessels that can be found in the lungs. This damage can result in problems, including heart failure, an irregular heartbeat, and lungs that have a disproportionately high blood pressure. Risk of stroke may also be higher. Moreover, often, the left side of a person’s heart is not properly developed.

In general, HLHS is discovered either during pregnancy or not long after a child is born. Screening tests can be used to find it while the mother is still pregnant. If is not discovered during pregnancy, it can easily be found out in the days following the birth. This is because the baby has a weak pulse, a bluish tint to their skin, breathing difficulties, and a heart murmur (a kind of windy sound that is heard in the heartbeat if blood flow is obstructed).